Evidence Details for PTK2B

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Basic Information Top

Gene Symbol:	PTK2B ( CADTK,CAKB,FADK2,FAK2,PKB,PTK,PYK2,RAFTK )
Gene Full Name:	PTK2B protein tyrosine kinase 2 beta
Band:	8p21.2
Quick Links	Entrez ID:2185; OMIM: 601212; Uniprot ID:FAK2_HUMAN; ENSEMBL ID: ENSG00000120899; HGNC ID: 9612
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>PTK2B|2185|nucleotide
ATGTCTGGGGTGTCCGAGCCCCTGAGTCGAGTAAAGTTGGGCACGTTACGCCGGCCTGAAGGCCCTGCAGAGCCCATGGTGGTGGTACCAGTAGATGTGGAAAAG
GAGGACGTGCGTATCCTCAAGGTCTGCTTCTATAGCAACAGCTTCAATCCTGGGAAAAACTTCAAACTGGTCAAATGCACTGTCCAGACGGAGATCCGGGAGATC
ATCACCTCCATCCTGCTGAGCGGGCGGATCGGGCCCAACATCCGGTTGGCTGAGTGCTATGGGCTGAGGCTGAAGCACATGAAGTCCGATGAGATCCACTGGCTG
CACCCACAGATGACGGTGGGTGAGGTGCAGGACAAGTATGAGTGTCTGCACGTGGAAGCCGAGTGGAGGTATGACCTTCAAATCCGCTACTTGCCAGAAGACTTC
ATGGAGAGCCTGAAGGAGGACAGGACCACGCTGCTCTATTTTTACCAACAGCTCCGGAACGACTACATGCAGCGCTACGCCAGCAAGGTCAGCGAGGGCATGGCC
CTGCAGCTGGGCTGCCTGGAGCTCAGGCGGTTCTTCAAGGATATGCCCCACAATGCACTTGACAAGAAGTCCAACTTCGAGCTCCTAGAAAAGGAAGTGGGGCTG
GACTTGTTTTTCCCAAAGCAGATGCAGGAGAACTTAAAGCCCAAACAGTTCCGGAAGATGATCCAGCAGACCTTCCAGCAGTACGCCTCGCTCAGGGAGGAGGAG
TGCGTCATGAAGTTCTTCAACACTCTCGCCGGCTTCGCCAACATCGACCAGGAGACCTACCGCTGTGAACTCATTCAAGGATGGAACATTACTGTGGACCTGGTC
ATTGGCCCTAAAGGGATCCGCCAGCTGACTAGTCAGGACGCAAAGCCCACCTGCCTGGCCGAGTTCAAGCAGATCAGGTCCATCAGGTGCCTCCCGCTGGAGGAG
GGCCAGGCAGTACTTCAGCTGGGCATTGAAGGTGCCCCCCAGGCCTTGTCCATCAAAACCTCATCCCTAGCAGAGGCTGAGAACATGGCTGACCTCATAGACGGC
TACTGCCGGCTGCAGGGTGAGCACCAAGGCTCTCTCATCATCCATCCTAGGAAAGATGGTGAGAAGCGGAACAGCCTGCCCCAGATCCCCATGCTAAACCTGGAG
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	1 (1)	1 (2)	1 (1)	0 (0)	1 (1)	0 (1)	0 (0)	0 (0)	0 (0)	9 (6)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
MIXED/OTHERS
Tao Y, 2016_2	replication	Illumina HumanHap550 BeadChip	2591	2588 (13.33%)			ASD	- from 1 to 108 years	- -

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Papanikolaou, 2006	-	FISH			autism	-	-	-	-	1	-	1
Berkel, 2010	Canada	SNP microarray			ASD	-	-	-	-	396	5023	5419

Linkage Studies Top

AutismKB 2.0

Evidence Details for PTK2B